One Reporter, Four Families, Six Scientists and the Search to Cure a Rare Disease

By

Amy Dockser Marcus

Feb 28, 2014 1:47 pm ET

Melissa Golden for The Wall Street Journal

Dylan Papier, one of the children profiled in Amy Dockser Marcus’s story, November 2013.

When my mother died in May 2007 from gallbladder cancer, I took a leave from my post as a health reporter at the Wall Street Journal with funding from a Robert Wood Johnson Foundation Investigator Award. Gallbladder cancer is a rare disease that affects about 7,000 people a year in the U.S., and I wanted to write about the challenges of developing drugs for rare diseases.

For the next six years, I followed a group of families and scientists trying to accelerate the development of a drug to treat Niemann-Pick Type C disease, a rare and fatal cholesterol metabolism disorder known as NPC that strikes primarily children.